Global Health Asia-Pacific Issue 1 | 2024 | Page 70

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Navigating the Future of Genetic Testing in Reproductive Medicine : PGT-M and PGT-A

By Aaron Chen , Scientific Director of Sunfert @ BangsarSouth
By providing valuable genetic information about embryos before implantation , these tests help couples make informed decisions about their reproductive options .

In the realm of reproductive medicine , genetic testing has emerged as a powerful tool , offering insights into potential genetic abnormalities in embryos before implantation . Preimplantation Genetic Testing for Monogenic Disorders ( PGT-M ) and Aneuploidy ( PGT-A ) are two such technologies revolutionizing the landscape of assisted reproductive techniques . Let ’ s delve into what they entail and how they are shaping the future of family planning .

PGT-M , also known as PGD ( Preimplantation Genetic Diagnosis ), targets single gene disorders , which are caused by mutations in a single gene such as , but not limited to thalassaemia , cystic fibrosis , sickle cell anaemia , muscular dystrophy , hearing loss , inheritable cancer gene etc . PGT-M involves extracting a few cells from an embryo created through in vitro fertilization ( I�F ) and analysing them to detect specific genetic mutations . This process allows prospective parents who carry a genetic disorder to screen embryos and select those free of the targeted mutation for implantation , thus reducing the risk of passing on the disorder to their offspring .
On the other hand , PGT-A focuses on screening embryos for aneuploidy , which refers to an abnormal number of chromosomes . Aneuploidy is a common cause of failed implantation , miscarriage , and chromosomal disorders such as Down syndrome and Turner syndrome . PGT-A analyses the chromosomal makeup of embryos to identify those with the correct number of chromosomes , enhancing the chances of successful implantation and reducing the likelihood of miscarriage .
Both PGT-M and PGT-A offer significant benefits to couples undergoing fertility treatments . By providing valuable genetic information about embryos before implantation , these tests help couples make informed decisions about their reproductive options . For couples at risk of passing on hereditary diseases , PGT-M offers the possibility of having a healthy child while minimizing the risk of genetic disorders . Similarly , PGT-A improves the likelihood of successful IVF outcomes by selecting embryos with the best genetic potential for implantation .
However , it ’ s essential to recognize that PGT-M and PGT-A are not without limitations and ethical considerations . The accuracy of these tests relies on the quality of the embryo biopsy and the expertise of the laboratory performing the analysis . Additionally , PGT-A has faced criticism regarding its e�cacy in improving live birth rates .
Furthermore , the cost of PGT-M and PGT-A can be prohibitive for many couples , making access to these technologies a privilege rather than a universal option . Ethical dilemmas also arise concerning the selection and potential discarding of embryos based on genetic criteria , raising questions about the implications for societal values and the concept of “ designer babies .”
As with any medical intervention , the decision to undergo PGT-M or PGT-A should be made in consultation with healthcare professionals who can provide comprehensive information , guidance , and support . While these technologies offer promising advancements in reproductive medicine , it ’ s crucial to approach them with careful consideration of the ethical , social , and emotional implications involved .
In conclusion , PGT-M and PGT-A represent groundbreaking advancements in reproductive genetics , offering couples the opportunity to screen embryos for genetic disorders and chromosomal abnormalities before implantation . While these technologies hold great promise for improving IVF outcomes and preventing hereditary diseases , they also raise important ethical and societal considerations that warrant ongoing dialogue and ethical reflection within the medical community and society at large . n
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